Primary Identifier | IPR017179 | Type | Family |
Short Name | Spastin |
description | Spastin is an ATP-dependent microtubule severing protein. Microtubule severing may promote reorganisation of cellular microtubule arrays and the release of microtubules from the microtubule organising centre following nucleation [, , ]. In humans, defects in spastin are the cause of spastic paraplegia autosomal dominant type 4 (SPG4). Spastic paraplegia is a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs [, ]. |